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SERPINB2 (Serpin Family B Member 2) is a Protein Coding gene. Diseases associated with SERPINB2 include Gingivitis and Pre-Eclampsia. Among its related pathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Formation of Fibrin Clot (Clotting Cascade). Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity. An important paralog of this gene is SERPINB1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH18J063887 | Promoter/Enhancer | 1.4 | EPDnew Ensembl ENCODE dbSUPER | 250.4 | +18.1 | 18130 | 5.2 | CEBPB CTCF EP300 SMC3 RAD21 SPI1 TCF7 POLR2A JUNB ATF7 | SERPINB2 SERPINB10 lnc-SERPINB3-6 | |
GH18J063828 | Promoter/Enhancer | 0.5 | EPDnew Ensembl | 250.3 | -43.4 | -43391 | 0.2 | HSALNG0122068-001 SERPINB2 SERPINB10 HSALNG0122067 SERPINB7 | ||
GH18J063903 | Promoter | 0.3 | EPDnew | 250.3 | +31.7 | 31690 | 0.1 | lnc-SERPINB3-7 SERPINB2 SERPINB10 HMSD | ||
GH18J063872 | Enhancer | 0.2 | FANTOM5 | 264.7 | +1.1 | 1064 | 0.2 | SERPINB2 SERPINB10 SERPINB8 SERPINB12 VPS4B lnc-SERPINB3-6 | ||
GH18J063878 | Enhancer | 1.3 | FANTOM5 Ensembl ENCODE dbSUPER | 33.4 | +9.7 | 9709 | 6.8 | CEBPB MAX EP300 EBF1 RFX5 STAT3 TCF7L2 JUND SPI1 BATF | SERPINB2 SERPINB10 SERPINB8 VPS4B lnc-SERPINB3-6 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004867 | serine-type endopeptidase inhibitor activity | IBA | 21873635 |
GO:0030414 | peptidase inhibitor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Formation of Fibrin Clot (Clotting Cascade) | ||
2 | Complement and coagulation cascades | ||
3 | Dissolution of Fibrin Clot | ||
4 | Response to elevated platelet cytosolic Ca2+ |
.44
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5 | Regulation of lipid metabolism Insulin signaling-generic cascades |
Cell adhesion PLAU signaling
.35
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0010466 | negative regulation of peptidase activity | IEA | -- |
GO:0010951 | negative regulation of endopeptidase activity | IBA | 21873635 |
GO:0035722 | interleukin-12-mediated signaling pathway | TAS | -- |
GO:0042060 | wound healing | IEA | -- |
GO:0042730 | fibrinolysis | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SERPINB2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SERPINB2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SERPINB2 30 31 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Serpinb2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Serpinb2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SERPINB2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SERPINB2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SERPINB2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SERPINB2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | serpinb1l1 31 |
|
ManyToMany | |
serpinb1l4 31 |
|
ManyToMany | |||
si:ch73-303g23.4 31 |
|
ManyToMany | |||
serpinb1l3 31 |
|
ManyToMany | |||
zgc:173729 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs138183373 | Benign: not provided | 63,895,334(+) |
G/A NM_002575.3(SERPINB2):c.239G>A (p.Gly80Glu) |
MISSENSE | |
rs139893427 | Likely Benign: not provided | 63,903,168(+) |
G/A NM_002575.3(SERPINB2):c.1111G>A (p.Ala371Thr) |
MISSENSE | |
rs140108044 | Benign: not provided | 63,897,207(+) |
G/A NM_002575.3(SERPINB2):c.405G>A (p.Ala135=) |
SYNONYMOUS | |
rs147312209 | Likely Benign: not provided | 63,902,544(+) |
C/T NM_002575.3(SERPINB2):c.819C>T (p.Ala273=) |
SYNONYMOUS | |
rs148240038 | Benign: not provided | 63,902,526(+) |
G/A NM_002575.3(SERPINB2):c.801G>A (p.Leu267=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv21739 | CNV | gain | 19812545 |
esv2758730 | CNV | loss | 17122850 |
esv3642785 | CNV | gain | 21293372 |
esv3642787 | CNV | loss | 21293372 |
nsv1066552 | CNV | gain | 25217958 |
nsv1067311 | CNV | loss | 25217958 |
nsv525889 | CNV | loss | 19592680 |
nsv833673 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
gingivitis |
|
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pre-eclampsia |
|
|
lipodermatosclerosis |
|
|
endometrial cancer |
|
|
adult respiratory distress syndrome |
|
|